Associated Papers
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature.
Koca O et al.
Cen Case Reports, 2024
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
Genotype-phenotype correlations in children with Gitelman syndrome.
Cho MH et al.
Clinical and Experimental Nephrology, 2024
Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea.
Lee JY et al.
Annals of Human Genetics, 2024
Gitelman syndrome with Graves' disease leading to rhabdomyolysis: a case report and literature review.
Xu J et al.
Bmc Nephrology, 2023
Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.
Wan ER et al.
Kidney International Reports, 2023
Cryo-EM structure of the human sodium-chloride cotransporter NCC.
Nan J et al.
Science Advances, 2022
Detecting pathogenic deep intronic variants in Gitelman syndrome.
Rossanti R et al.
American Journal of Medical Genetics. Part A, 2022
The Impact of Gitelman Syndrome on Cardiovascular Disease: From Physiopathology to Clinical Management.
Bezzeccheri A et al.
Reviews in Cardiovascular Medicine, 2022
Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review.
Qin YZ et al.
World Journal of Clinical Cases, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Genetic and Biological Effects of SLC12A3, a Sodium-Chloride Cotransporter, in Gitelman Syndrome and Diabetic Kidney Disease.
Li N et al.
Frontiers in Genetics, 2022
Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example.
Yang Y et al.
The Application of Clinical Genetics, 2022
Genetic analysis of SLC12A3 gene and diagnostic process in patients with Gitelman syndrome.
Zheng X et al.
Clinical Nephrology, 2021
Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases.
Kondo A et al.
Scientific Reports, 2021
Long-term Clinical Course after Living Kidney Donation by a Patient with Gitelman Syndrome Harboring a Compound Heterozygous Mutation of the SLC12A3 Gene.
Kamejima S et al.
Internal Medicine (tokyo, Japan), 2021
Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood.
Mori T et al.
Human Mutation, 2021
PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports.
Chang YM et al.
Frontiers in Pediatrics, 2021
Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency.
Umene R et al.
Cen Case Reports, 2020
[Clinical and genetic analysis of a patient with Gitelman syndrome misdiagnosed as hypokalemic periodic paralysis].
Gao M et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
A Case of Gitelman Syndrome that Was Difficult to Distinguish from Hypokalemic Periodic Paralysis Caused by Graves' Disease.
Oba T et al.
Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi, 2019
Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome.
Zeng Y et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019
Complicated Gitelman syndrome and autoimmune thyroid disease: a case report with a new homozygous mutation in the SLC12A3 gene and literature review.
Zhou H et al.
Bmc Endocrine Disorders, 2018
Acquired Gitelman syndrome in a primary Sjögren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review.
Gu X et al.
Nephrology (carlton, Vic.), 2017
Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.
Lee JW et al.
Journal of Korean Medical Science, 2016
Association of variants in renal salt reabsorption-related gene SLC12A3 with essential hypertension in a Mongolian population.
Liang JQ et al.
Genetics and Molecular Research : Gmr, 2015
Thiazide-sensitive Na+-Cl- cotransporter: genetic polymorphisms and human diseases.
Wang L et al.
Acta Biochimica Et Biophysica Sinica, 2015
Development of enzyme-linked immunosorbent assays for urinary thiazide-sensitive Na-Cl cotransporter measurement.
Isobe K et al.
American Journal of Physiology. Renal Physiology, 2013
A novel compound heterozygous mutation of Gitelman's syndrome in Japan, as diagnosed by an extraordinary response of the fractional excretion rate of chloride in the trichlormethiazide loading test.
Ueda K et al.
Internal Medicine (tokyo, Japan), 2012
Inheritance of an autosomal recessive disorder, Gitelman's syndrome, across two generations in one family.
Yagi H et al.
Internal Medicine (tokyo, Japan), 2011
A case of Gitelman syndrome associated with idiopathic intracranial hypertension.
Tsutsui H et al.
Internal Medicine (tokyo, Japan), 2011
Two adjacent mutations on chromosome 16 discovered in a patient presenting with generalized convulsions after influenza A virus infection.
Iwasaki Y et al.
Internal Medicine (tokyo, Japan), 2011
The pharmacological characteristics of molecular-based inherited salt-losing tubulopathies.
Nozu K et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
[A novel mutation of the thiazide-sensitive Na-Cl cotransporter gene in a patient with Gitelman's syndrome].
Okada H et al.
Nihon Naika Gakkai Zasshi. the Journal of the Japanese Society of Internal Medicine, 2010
Problems in diagnosing atypical Gitelman's syndrome presenting with normomagnesaemia.
Nakamura A et al.
Clinical Endocrinology, 2010
[Establishment of genetic testing for Gitelman's syndrome].
Nakayama T et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology, 2010
[Mutational analysis of a thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in a Japanese population--the Iwaki Health Promotion Project].
Yasujima M et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology, 2009
Case-control study of the role of the Gitelman's syndrome gene in essential hypertension.
Aoi N et al.
Endocrine Journal, 2008
Reduced urinary excretion of thiazide-sensitive Na-Cl cotransporter in Gitelman syndrome: preliminary data.
Joo KW et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2007
Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome.
Aoi N et al.
Endocrine, 2007